487 results match your criteria Pachyonychia Congenita


Successful treatment of Pachyonychia congenita with Rosuvastatin.

Authors:
L Frommherz C Has

J Eur Acad Dermatol Venereol 2020 Apr 1. Epub 2020 Apr 1.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.16393DOI Listing

A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.

Mol Biol Cell 2020 May 26;31(11):1103-1111. Epub 2020 Mar 26.

Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109.

Mitochondria fulfill essential roles in ATP production, metabolic regulation, calcium signaling, generation of reactive oxygen species (ROS), and additional determinants of cellular health. Recent studies have highlighted a role for mitochondria during cell differentiation, including in skin epidermis. The observation of oxidative stress in keratinocytes from null mouse skin, a model for pachyonychia congenita (PC)-associated palmoplantar keratoderma, prompted us to examine the role of Keratin (K) 16 protein and its partner K6 in regulating the structure and function of mitochondria. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1091/mbc.E19-10-0565DOI Listing
May 2020
4.466 Impact Factor

Pachyonychia congenita, a paradigm for rare skin disorders.

Br J Dermatol 2020 Mar;182(3):521-522

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London and Department of Dermatology, Barts Health NHS Trust, London, ERN-Skin, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18817DOI Listing

Sharing (data) is caring for patients with pachyonychia congenita.

Authors:
D A Mordaunt

Br J Dermatol 2020 Mar 20;182(3):537. Epub 2020 Jan 20.

Division of Genetics and Molecular Pathology, SA Pathology, 72 King William Road, North Adelaide, SA, 5006, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18850DOI Listing

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita.

Br J Dermatol 2020 Mar 20;182(3):536-537. Epub 2020 Jan 20.

Department Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, U.S.A.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18849DOI Listing

Numerous flesh-colored nodules on the trunk.

Cutis 2019 Dec;104(6):E22-E24

Division of Dermatology, University of Kansas, Kansas City, USA.

View Article

Download full-text PDF

Source
December 2019

Pachyonychia congenita and botulinum toxin.

Authors:
B R Thomas A Sahota

Br J Dermatol 2020 Mar 25;182(3):531-532. Epub 2019 Dec 25.

Department of Dermatology, Barts Health NHS Trust, Whitechapel Road, London, E1 1BB, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18784DOI Listing

The histopathological features of the nail plate in pachyonychia congenita.

J Cutan Pathol 2020 Apr 9;47(4):357-362. Epub 2020 Jan 9.

Department of Dermatology, Perleman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization mediated by genetic mutations in KRT6A, KRT6B, KRT6C, KRT16, or KRT17. While nail dystrophy in PC has a significant impact on quality of life, the histopathological features of the nail plate in PC have not been previously reported. We report the histopathological features of nail plates provided by 19 patients with genetically confirmed PC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cup.13630DOI Listing

Plantar pain and thickened nails: a genodermatosis.

Arch Dis Child 2019 Dec 13. Epub 2019 Dec 13.

Dermatology, Venereology and Leprosy, RG Kar Medical College and Hospital, Kolkata, West Bengal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2019-318392DOI Listing
December 2019
5 Reads
2.899 Impact Factor

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.

Br J Dermatol 2020 Mar 14;182(3):738-746. Epub 2020 Jan 14.

Department of Dermatology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

Background: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). The establishment of an international registry containing clinical and molecular data led to the development of a disease classification based on the mutant gene and associated features.

Objectives: To harness the same resource to clarify the prevalence of PC-associated clinical features, delineate phenotype-genotype correlations and identify prognostic features for disease severity. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18794DOI Listing

Current mysteries of pachyonychia congenita.

Br J Dermatol 2020 Mar 8;182(3):525-526. Epub 2019 Dec 8.

Institute of Molecular and Cellular Anatomy, RWTH Aachen University, Wendlingweg 2, 52074, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18688DOI Listing

Dermpath & Clinic: Multiple nodules in the axillae: is it that old chestnut Hidradenitis suppurativa again?

Eur J Dermatol 2019 Oct;29(5):569-570

Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Josef-Schneider-Str 2, 97080 Würzburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2019.3648DOI Listing
October 2019

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.

Br J Dermatol 2020 Mar 25;182(3):708-713. Epub 2019 Dec 25.

Department of Dermatology, University of Utah, UT, U.S.A.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral cavity and upper airways can manifest with pain during feeding, hoarseness, stridor and, occasionally, life-threatening obstruction. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18742DOI Listing

Update on pachyonychia congenita research.

Br J Dermatol 2020 Mar 13;182(3):788-789. Epub 2019 Dec 13.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18630DOI Listing

[Genetic study of a Chinese pedigree affected with pachyonychia congenita].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Oct;36(10):985-988

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.

Objective: To explore the genetic basis for a Chinese pedigree affected with pachyonychia congenita (PC).

Methods: With informed consent obtained, peripheral blood samples were taken from the pedigree. Genomic DNA was extracted with a phenol/chloroform method. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.10.008DOI Listing
October 2019

Old mitochondria accumulate in pachyonychia congenita.

Authors:
A Vetter T M Magin

Br J Dermatol 2020 Mar 30;182(3):529-530. Epub 2019 Sep 30.

Institute of Biology, Division of Cell and Developmental Biology, University of Leipzig, 04103, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18465DOI Listing

Steatocystoma multiplex suppurativa associated with hidradenitis suppurativa successfully treated with adalimumab.

J Eur Acad Dermatol Venereol 2019 Oct;33 Suppl 6:42-44

Section of Dermatology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Steatocystoma multiplex (SM) is a rare autosomal dominant disease characterized by multiple asymptomatic intradermal true sebaceous cysts of variable size. These lesions may occasionally rupture, become inflamed, painful and heal with scarring [SM suppurativa (SMS)], thus sharing overlapping features with hidradenitis suppurativa (HS). The question of whether SMS simply mimics HS or if the two diseases may be associated remains open. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.15848DOI Listing
October 2019
14 Reads

Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.

J Eur Acad Dermatol Venereol 2019 Oct;33 Suppl 6:36-39

Dermatology Clinic, University of Catania, Catania, Italy.

The case of a 24-year-old male patient affected by follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, pilonidal cyst and dissecting cellulitis of the scalp) associated with clinical signs of pachyonychia congenita (PC)-2 (focal palmoplantar keratoderma, plantar pain, onycodystrophy and multiple cysts) is reported. The diagnosis was supported by genetic analysis that showed heterozygous mutation within the exon 1 of KRT17 gene. This case may reflect different expressions of a phenotypic spectrum induced by a common genetic alteration. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/jdv.15851
Publisher Site
http://dx.doi.org/10.1111/jdv.15851DOI Listing
October 2019
5 Reads

Stopping pachyonychia congenita plantar pain with a statin?

Br J Dermatol 2019 09 6;181(3):446-447. Epub 2019 Aug 6.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18254DOI Listing
September 2019
1 Read

Pachyonychia congenita responding favorably to a combination of surgical and medical therapies.

Dermatol Ther 2019 09 16;32(5):e13045. Epub 2019 Aug 16.

Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Pachyonychia congenital (PC) is a rare genetic disorder of cornification and is classified into five types on the basis of keratin gene involved. There are no established treatment options available for PC. Sirolimus in both topical and oral form has been studied in management of PC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.13045DOI Listing
September 2019
10 Reads

Coexistence of steatocystoma multiplex and hidradenitis suppurativa: Assessment of this unique association by means of ultrasonography and Color Doppler.

Skin Res Technol 2019 Nov 28;25(6):877-880. Epub 2019 Jul 28.

UOC Dermatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Steatocystoma multiplex (SM) is an uncommon skin disease manifesting as multiple sebum-containing cysts arising in pilosebaceous unit-rich body areas. Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory disease affecting the apocrine gland-bearing skin and presenting with both pseudocystic and inflammatory nodules, abscesses and fistulas. Considering that genetics has been reported to play a role in both entities, the albeit rare association between them suggests a shared genetic background. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/srt.12751DOI Listing
November 2019
1 Read

Intravenous Ketamine as an Adjunct for Pachyonychia Congenita-Associated Pain: A Case Report.

A A Pract 2019 Oct;13(8):319-321

From the Department of Anesthesiology, Perioperative and Pain Medicine, Stanford University, Stanford, California.

Pachyonychia congenita (PC) is a rare, inherited disorder of keratin filaments characterized by palmoplantar hyperkeratosis, keratoderma, and extreme pain. Management is largely symptomatic and typically involves multimodal pain control strategies. Here, we report the treatment of one 21-year-old man's refractory neuropathic PC pain with a 4-day inpatient ketamine infusion. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1213/XAA.0000000000001066DOI Listing
October 2019
6 Reads

Mutation analysis of the KRT17 gene in steatocystoma multiplex and a brief literature review.

Clin Exp Dermatol 2020 Jan 17;45(1):132-134. Epub 2019 Sep 17.

Shandong Provincial Hospital for Skin Diseases, Shandong University, 27397 Jingshi Road, Jinan, Shandong, 250022, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.14030DOI Listing
January 2020
10 Reads

Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.

Hum Mol Genet 2019 07;28(13):2255-2270

Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.

The type I intermediate filament keratin 16 (KRT16 gene; K16 protein) is constitutively expressed in ectoderm-derived appendages and in palmar/plantar epidermis and is robustly induced when the epidermis experiences chemical, mechanical or environmental stress. Missense mutations at the KRT16 locus can cause pachyonychia congenita (PC, OMIM:167200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613000), which each entail painful calluses on palmar and plantar skin. Krt16-null mice develop footpad lesions that mimic PC-associated PPK, providing an opportunity to decipher its pathophysiology, and develop therapies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602407PMC
July 2019
17 Reads

A treatment protocol for botulinum toxin injections in the treatment of pachyonychia congenita-associated keratoderma.

Br J Dermatol 2020 Mar 8;182(3):671-677. Epub 2019 Sep 8.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Background: Severely debilitating plantar keratoderma pain is the most distressing clinical feature of pachyonychia congenita (PC). Several earlier publications have reported therapeutic success with plantar injections of botulinum toxin (Btx).

Objectives: To describe our 4-year experience during which we administered a total of 30 plantar Btx injections to five patients with PC following an optimized protocol. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18169DOI Listing
March 2020
8 Reads

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

Periodontol 2000 2019 06;80(1):12-27

WHO Collaboration Centre for Epidemiology and Community Dentistry, University of Milan, Milan, Italy.

A large number of disorders may affect the oral cavity, including genetic diseases, infections, cancers, blood diseases, skin diseases, endocrine and metabolic disorders, autoimmune and rheumatologic diseases, local lesions, to name a few. Oral mucosa shows a considerable variation in its normal structure and a wide range of conditions may affect it. Such conditions are often harmless or minor and could be primary or secondary to systemic disease. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/prd.12261
Publisher Site
http://dx.doi.org/10.1111/prd.12261DOI Listing
June 2019
39 Reads

A systematic review of reported cases of pachyonychia congenita tarda.

Clin Exp Dermatol 2019 Aug 10;44(6):606-612. Epub 2019 May 10.

Department of Dermatology, Liverpool Hospital, Sydney, NSW, Australia.

Pachyonychia congenita (PC) describes a group of genodermatoses manifesting as thickened nails, palmoplantar keratoderma (PPK) and increased risk of cutaneous infections. PC tarda (PCT) describes late-onset PC, and associated genetic polymorphisms have been identified. There has been discussion that PCT may not be a distinct entity but rather misdiagnosed ectodermal dysplasia (ED) or PPK. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13980DOI Listing
August 2019
8 Reads

Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.

Br J Dermatol 2020 Mar 24;182(3):564-573. Epub 2019 Jul 24.

Department of Cell and Developmental Biology, University of Michigan Medical School, 3071 Biomedical Sciences Research Building, 109 Zina Pitcher Place, Ann Arbor, MI, 48109, U.S.A.

Background: Pachyonychia congenita (PC), a rare genodermatosis, primarily affects ectoderm-derived epithelial appendages and typically includes oral leukokeratosis, nail dystrophy and very painful palmoplantar keratoderma (PPK). PC dramatically impacts quality of life although it does not affect lifespan. PC can arise from mutations in any of the wound-repair-associated keratin genes KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814456PMC
March 2020
12 Reads

Keratin 6a mutations lead to impaired mitochondrial quality control.

Br J Dermatol 2020 Mar 21;182(3):636-647. Epub 2019 Jul 21.

Institute of Molecular and Cellular Anatomy, RWTH Aachen University, Aachen, Germany.

Background: Epidermal differentiation is a multilevel process in which keratinocytes need to lose their organelles, including their mitochondria, by autophagy. Disturbed autophagy leads to thickening of the epidermis as seen in pachyonychia congenita (PC), a rare skin disease caused by mutations in keratins 6, 16 and 17.

Objectives: To ask if mitophagy, the selective degradation of mitochondria by autophagy, is disturbed in PC and, if so, at which stage. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18014DOI Listing
March 2020
5 Reads

Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.

J Dent Child (Chic) 2019 Jan;86(1):61-63

Assistant professor, Faculty of Dentistry, McGill University and a research director, Division of Dentistry, Montreal Children's Hospital, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

Pachyonychia congenita (PC) is a rare autosomal dominant condition caused by heterozygous mutation in one of five keratin genes. The purpose of this paper is to report a five-day-old infant with PC whose initial presentation revealed multiple malformed natal teeth and gingival lesions on the alveolar crest. Further investiga- tions led to genetic molecular testing of the child and his parents, which revealed a de novo and novel missense variant of KRT17 (c. Read More

View Article

Download full-text PDF

Source
January 2019
7 Reads

A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.

J Cosmet Dermatol 2019 Dec 12;18(6):1930-1934. Epub 2019 Mar 12.

Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.

Background: Pachyonychia congenita (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, palmoplantar keratoderma, and plantar pain. It is caused by the mutation of KRT6A, KRT6B, KRT6C, KRT16, or KRT17.

Aims: To identify the gene mutation caused the PC in a Chinese family. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jocd.12905DOI Listing
December 2019
27 Reads

Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.

Br J Dermatol 2019 09 2;181(3):618-620. Epub 2019 Jun 2.

Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.17839DOI Listing
September 2019
8 Reads

Numerous asymptomatic dermal cysts: Diagnosis and treatment of steatocystoma multiplex.

Can Fam Physician 2018 12;64(12):892-899

Lecturer and staff dermatologist in the Division of Dermatology at the University of Toronto.

Objective: To provide family physicians with the information needed to recognize, diagnose, and discuss available treatment options for steatocystoma multiplex (SM).

Sources Of Information: A comprehensive PubMed search using as either a text word or a MeSH term was conducted, and articles reporting on treatment outcomes were included.

Main Message: Steatocystoma multiplex is a benign disorder often characterized by numerous asymptomatic dermal cysts on the trunk, arms, axillae, face, thighs, and scalp. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371868PMC
December 2018
55 Reads
1.403 Impact Factor

Thick nails, plantar keratoderma, follicular hyperkeratosis, and leukokeratosis associated with a novel mutation in KRT6A gene.

Int J Dermatol 2019 Apr 4;58(4):E89-E90. Epub 2018 Dec 4.

Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14333DOI Listing

Treatment of steatocystoma multiplex on axillae using keyhole approach technique.

J Cosmet Laser Ther 2019 16;21(4). Epub 2018 Oct 16.

Department of Dermatology, Ho Wen Tsao Skin Clinic , New Taipei City , Taiwan, ROC.

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/14764172.2018.1
Publisher Site
http://dx.doi.org/10.1080/14764172.2018.1525746DOI Listing
March 2020
27 Reads

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.

Br J Dermatol 2019 09 2;181(3):584-586. Epub 2018 Dec 2.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.

Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by nail dystrophy and palmoplantar keratoderma with severe plantar pain affecting quality of life. There is no effective treatment. Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bjd.17276
Publisher Site
http://dx.doi.org/10.1111/bjd.17276DOI Listing
September 2019
8 Reads

Keratin 17 in disease pathogenesis: from cancer to dermatoses.

J Pathol 2019 02 7;247(2):158-165. Epub 2018 Dec 7.

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, PR, China.

Keratin 17 (K17) is a type I intermediate filament mainly expressed in the basal cells of epithelia. As a multifaceted cytoskeletal protein, K17 regulates a myriad of biological processes, including cell proliferation and growth, skin inflammation and hair follicle cycling. Aberrant overexpression of K17 is found in various diseases ranging from psoriasis to malignancies such as breast, cervical, oral squamous and gastric carcinomas. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/path.5178
Publisher Site
http://dx.doi.org/10.1002/path.5178DOI Listing
February 2019
33 Reads

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Clin Exp Dermatol 2019 Jul 4;44(5):528-534. Epub 2018 Oct 4.

Alan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.

Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13800DOI Listing
July 2019
17 Reads

Nociceptin/orphanin FQ opioid peptide-receptor expression in pachyonychia congenita.

J Peripher Nerv Syst 2018 12 16;23(4):241-248. Epub 2018 Oct 16.

Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland.

Nociceptin/orphanin FQ opioid peptide (NOP)-receptor (NOP-R) is a member of the opioid receptor family. NOP-R activation has demonstrated analgesic effects in preclinical pain models without the addiction risks associated with other opiate targets. Pachyonychia congenita (PC) is a palmoplantar keratoderma characterized by neuropathic pain in affected skin. Read More

View Article

Download full-text PDF

Source
https://www.researchgate.net/topic/Opioid-Peptides
Web Search
https://www.researchgate.net/topic/Opiate-Alkaloids
Web Search
http://doi.wiley.com/10.1111/jns.12288
Publisher Site
http://dx.doi.org/10.1111/jns.12288DOI Listing
December 2018
38 Reads

Plantar pain in pachyonychia congenita.

Br J Dermatol 2018 07;179(1):11-12

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, U.K.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bjd.16700
Publisher Site
http://dx.doi.org/10.1111/bjd.16700DOI Listing
July 2018
12 Reads

Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.

Int J Dermatol 2018 09 25;57(9):e73-e75. Epub 2018 Jun 25.

Pachyonychia Congenita Project, Holladay, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14096DOI Listing
September 2018
23 Reads

Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.

J Invest Dermatol 2019 01 25;139(1):238-241. Epub 2018 Sep 25.

Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022202X183232
Publisher Site
http://dx.doi.org/10.1016/j.jid.2018.07.005DOI Listing
January 2019
45 Reads

Facial cystic lesions and onychodystrophy.

Pediatr Dermatol 2018 Jul;35(4):517-518

Department of Dermatology, Hospital Clínico Universitario, Valencia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13477DOI Listing
July 2018
7 Reads

Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2.

Int J Dermatol 2019 Feb 15;58(2):233-236. Epub 2018 Jun 15.

Division of Dermatology, McGill University Health Center, Montréal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14082DOI Listing
February 2019
7 Reads

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Mol Med Rep 2018 Aug 5;18(2):1423-1432. Epub 2018 Jun 5.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2018.9130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072187PMC
August 2018
33 Reads

Novel treatment of painful plantar keratoderma in pachyonychia congenita using topical sirolimus.

Clin Exp Dermatol 2018 12 7;43(8):968-971. Epub 2018 Jun 7.

Oxnard Dermatology Medical Group, Oxnard, CA, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ced.13686
Publisher Site
http://dx.doi.org/10.1111/ced.13686DOI Listing
December 2018
7 Reads

Sex Matters: Interfering with the Oxidative Stress Response in Pachyonychia Congenita.

J Invest Dermatol 2018 05;138(5):1019-1022

Institute of Molecular and Cellular Anatomy, Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen, Germany.

Pachyonychia congenita is an incurable and often debilitating genodermatosis. Topical application of the antioxidative response inducer sulforaphane, however, alleviates disease symptoms in a murine pachyonychia congenita model, forecasting clinical benefits. The Coulombe laboratory now reports sex-dependent differences in sulforaphane responsiveness of pachyonychia congenita mice, thereby dampening treatment expectations but also unveiling novel aspects of sex-specific oxidative stress reactivity in the epidermis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2017.12.017DOI Listing
May 2018
13 Reads

The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.

Exp Dermatol 2018 06 19;27(6):672-674. Epub 2018 Apr 19.

Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.

The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16 mice develop oral lesions early after birth and PC-like PPK lesions as young adults. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/exd.13509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013353PMC
June 2018
6 Reads

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

PLoS Genet 2018 01 22;14(1):e1007168. Epub 2018 Jan 22.

Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States of America.

Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. Read More

View Article

Download full-text PDF

Source
https://dx.plos.org/10.1371/journal.pgen.1007168
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1007168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794186PMC
January 2018
36 Reads